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期刊来源：Nat Med

原文链接：https://doi.org/10.1038/s41591-023-02682-0

摘要内容如下：

100000基因组计划的癌症项目是一项为癌症患者提供全基因组测序（WGS）的计划，旨在评估英国国家医疗保健系统（NHS）内的精准癌症护理机会。Genomics England与英国国家医疗服务系统（NHS England）合作，在安全的研究环境中，将基因组数据与真实世界的治疗和结果数据相结合，分析了涵盖33种癌症类型的13，880个实体瘤的WGS数据。推荐用于标准治疗检测的基因中体细胞突变的发生率因癌症类型而异。例如，在多形性胶质母细胞瘤中，94%的病例中存在小变异，58%的病例中存在至少一个基因的拷贝数异常，而肉瘤中可操作的结构变异的发生率最高（13%）。在40%的高级别浆液性卵巢癌病例中发现了同源重组缺陷，其中30%与致病性种系变异有关，这突出了联合体细胞和种系分析的价值。WGS和纵向生命过程临床数据的联系允许对根据泛基因组标记物分层的患者的治疗结果进行评估。我们的研究结果表明，将基因组和真实世界的临床数据联系起来，使生存分析能够识别影响预后的癌症基因，并促进我们对癌症基因组学如何影响患者预后的理解。

英文原文如下：

Abstracts

The Cancer Programme of the 100,000 Genomes Project was an initiative to provide whole-genome sequencing (WGS) for patients with cancer, evaluating opportunities for precision cancer care within the UK National Healthcare System (NHS). Genomics England, alongside NHS England, analyzed WGS data from 13,880 solid tumors spanning 33 cancer types, integrating genomic data with real-world treatment and outcome data, within a secure Research Environment. Incidence of somatic mutations in genes recommended for standard-of-care testing varied across cancer types. For instance, in glioblastoma multiforme, small variants were present in 94% of cases and copy number aberrations in at least one gene in 58% of cases, while sarcoma demonstrated the highest occurrence of actionable structural variants (13%). Homologous recombination deficiency was identified in 40% of high-grade serous ovarian cancer cases with 30% linked to pathogenic germline variants, highlighting the value of combined somatic and germline analysis. The linkage of WGS and longitudinal life course clinical data allowed the assessment of treatment outcomes for patients stratified according to pangenomic markers. Our findings demonstrate the utility of linking genomic and real-world clinical data to enable survival analysis to identify cancer genes that affect prognosis and advance our understanding of how cancer genomics impacts patient outcomes.

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